ANALYSIS OF THE C.757A>G P.(ILE253VAL) VARIANT OF THE SLC26A4 GENE IN GJB2-NEGATIVE PATIENTS WITH HEARING LOSS IN YAKUTIA

被引：0

作者：

Pshennikova, V. G. ^{[1
]}

Teryutin, F. M. ^{[1
]}

Borisova, T. V. ^{[2
]}

Cherdonova, A. M.

Barashkov, N. A.

Fedorova, S. A.

机构：

[1] Yakut Sci Ctr Complex Med Problems YSC CMP, Yakutsk, Russia

[2] North Eastern Fed Univ NEFU, Yakutsk, Russia

来源：

YAKUT MEDICAL JOURNAL | 2023年 / 03期

关键词：

variant c.757A>G p.(Ile253Val); SLC26A4; gene; pendrin (SLC26A4); sensorineural hearing loss; PENDRED-SYNDROME GENE; MUTATIONS; SLC26A4; GUIDELINES; TRANSPORT; CELLS;

D O I：

10.25789/YMJ.2023.83.20

中图分类号：

R-3 [医学研究方法]; R3 [基础医学];

学科分类号：

1001 ;

摘要：

In this work, we searched for the missense variant c.757A>G p.(Ile253Val) of the SLC26A4 gene in GJB2-negative patients with hearing loss (n=201) and in the control group of hearing individuals (n=103) in Yakutia. As a result, this variant was detected with a frequency of 2.02% among patients, in the control group 1.94%. To interpretation the clinical significance, a frequency analysis of this variant and in silico evaluation were performed, the results of which are in favor of the likely benign of the c.757A>G p.(Ile253Val) variant of the SLC26A4 gene, as indicated by the high frequency of occurrence in population samples, and the fact that this missense substitution theoretically does not violate the structural stability of the pendrin protein (SLC26A4).

引用

页数：121

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